Primeros resultados de la disección del ganglio centinela en los carcinomas epidermoides vulvares / First results in the sentinel lymph node procedure in vulvar squamous cell carcinoma

Objetivos: Conocer nuestros primeros resultados en la disección selectiva del ganglio centinela en el cáncer de vulva, en cuanto a tasa de detección del ganglio, casos de falsos negativos y su relación con la recidiva tumoral o no. Material y métodos: Estudio retrospectivo de los primeros 9 casos de ganglio centinela en carcinomas epidermoides vulvares, realizado entre junio de 2004 y diciembre de 2007. Resultados: Se detectó el ganglio centinela en 8 de las 9 pacientes; la tasa de detección fue del 88,8%. No hubo ningún caso de falso negativo, por lo que el valor predictivo negativo de la técnica fue del 100%. Solamente una paciente con ganglio centinela negativo ha fallecido por cáncer de vulva; esta mujer estaba afectada por anemia de Fanconi. Conclusiones: La técnica del ganglio centinela en los carcinomas epidermoides vulvares es factible y puede ser una alternativa a la linfadenectomía inguinofemoral convencional (AU)

Objective: The aim was to analyse our first results in the sentinel lymph node procedure in vulvar cancer, as regards the detection rate, false negative cases and relation with cancer recurrence or not. Material and methods: Retrospective study of first 9 cases of sentinel lymph node detection in vulvar squamous cell carcinoma, between June 2004 and December 2007. Results: We identified the sentinel node in 8 out of 9 patients (88% detection rate). There were no false negative cases, giving a negative predictive value of 100 %. Only one patient with a negative sentinel node died of vulvar cancer. She also had Fanconi anaemia. Conclusions: Sentinel lymph node detection in patients with squamous cell carcinoma of the vulva is feasible, and can be an alternative to conventional inguinofemoral lymphadenectomy (AU)

Nephropathic cystinosis: late complications of a multisystemic disease.

Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder. Prior to renal transplantation and cystine-depleting therapy with cysteamine for children with nephropathic cystinosis, their lifespan was approximately 10 years. Now, cystinotic patients have survived through their fifth decade, but the unremitting accumulation of cystine has created significant non-renal morbidity and mortality. In this article we review the classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder's systemic involvement. We also emphasize the role of oral cysteamine therapy in preventing the late complications of cystinosis.

Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome.

OBJECTIVE: To evaluate survival time of dogs with idiopathic Fanconi syndrome. DESIGN: Case series. ANIMALS: 60 dogs with idiopathic Fanconi syndrome. PROCEDURE: Data were collected by means of questionnaires distributed to owners and veterinarians of dogs with idiopathic Fanconi syndrome and by examination of medical records when accessible. Questionnaires and records were reviewed for criteria used in diagnosis, treatments administered, survival time, and subjective owner perceptions regarding their dogs' general condition. RESULTS: 58 of the dogs were Basenjis. Fifty-seven dogs (95%) were reportedly managed by use of a single therapeutic regimen. Median survival time after diagnosis of Fanconi syndrome was 5.25 years; median estimated lifespan was calculated to be between 11.3 and 12.1 years. Owners of 28 of 29 (97%) dogs still alive at the time of the study subjectively assessed their dogs' general condition as good to excellent. Seizures or other neurologic dysfunction was reported for 11 dogs. CONCLUSIONS AND CLINICAL RELEVANCE: Results suggest that expected lifespan for dogs with idiopathic Fanconi syndrome was not substantially reduced, compared with expected lifespan for unaffected dogs, and that affected dogs generally had a good to excellent quality of life, as subjectively assessed by their owners. What effect the treatment regimen had on survival time or lifespan could not be determined, given the small number of dogs managed with other methods. The high percentage of dogs with neurologic abnormalities was a concern, but whether this was related to Fanconi syndrome or represented a breed-related predisposition to neurologic disease could not be determined.

Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients.

Fifty-seven cases of Ig light chain-associated Fanconi syndrome (FS) have been reported so far, mostly as isolated reports. The pioneering work by Maldonado and associates (35), who reviewed the first 17 cases in 1975, led to the unifying concept that patients with FS and Bence Jones proteinuria have a special form of plasma cell dyscrasia characterized by slow progression of the tumor and by prominent crystal formation in proximal tubule cells, in the absence of myeloma casts in the distal tubule. We carefully reappraised these characteristics in a series of 11 patients. Ten renal biopsy specimens were available for electron microscopy, adding to the 15 previously reported cases with ultrastructural studies. Moreover, 10 of the kappa light chains could be entirely or partially sequenced and tested for their resistance to cathepsin B, a lysosomal protease present in proximal tubule cells. Our series showed an unexpected clinicopathologic heterogeneity. Seven patients presented with the typical clinical and pathologic features of FS and low-mass myeloma or monoclonal gammopathy of undetermined significance (MGUS), in keeping with Maldonado et al's description. Crystals in bone marrow cells were detected in patients of this group, only. Three patients who presented with full-blown FS exhibited, however, the characteristic features of myeloma cast nephropathy in the setting of high-mass myeloma. One patient of this group also had numerous crystals in proximal tubule cells. The eleventh patient had complete FS with MGUS, but no crystals in proximal tubule cells even after electron microscopy. Contrasting with the clinicopathologic heterogeneity, genetic and biochemical analyses of the light chains showed a striking homogeneity. First, they all were of the kappa type. Second, 8 of 9 belonged to the V kappa I variability subgroup, which indicates that FS light chains are related by the sequence of their variable regions. Third, the 8 V kappa I light chain sequences most likely originated from only 2 germline genes, LCO2/012 and LCO8/018. Fourth, all 5 LCO2/012-derived sequences presented an unusual hydrophobic or nonpolar residue at position 30. These sequence peculiarities may account for unusual physicochemical properties of the light chains including the resistance of their variable domain V kappa to proteolysis by cathepsin B, observed in 7 of 9 patients in our series, while light chains isolated from patients with myeloma cast nephropathy are completely digested. Resistance of V kappa to proteolysis in FS patients can explain the accumulation of the light chain in the endocytotic compartment of the proximal tubule cells, leading to impairment of proximal tubule functions.